title: Small supernumerary marker chromosomes (sSMC) - what about the genotype-phenotype correlation?
abstract: Genotype-phenotype correlations in patients with small supernumerary marker chromosomes (sSMC) are still difficult to asses. Here we review the presently known influence of chromosomal imbalance induced by sSMC size and origin, mosaicism of sSMC in different cells of the body and uniparental disomy (UPD) of sSMC's sister chromosomes on the clinical outcome.
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany. i8lith@mti.uni-jena.de
authors.forename: Th
authors.initials: T
authors.lastname: Liehr
authors.forename: N
authors.initials: N
authors.lastname: Kosyakova
mesh_terms: D002869:Chromosome Aberrations; D002875:Chromosomes / Q000235:genetics*; D056726:Genetic Association Studies; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism; D024182:Uniparental Disomy / Q000235:genetics* / Q000473:pathology
chemical_list: D005819:Genetic Markers